The TUBB4A gene is responsible for encoding the beta-4A tubulin protein, which forms a crucial part of the microtubule cytoskeleton. Microtubules are the building blocks of the cytoskeleton, providing structural support and facilitating intracellular transport. Mutations in the TUBB4A gene have been linked to a condition called tubb4a-related leukodystrophy, which affects the myelin sheath in the brain.

Tubb4a-related leukodystrophy is a rare genetic disorder that usually manifests in childhood. It is characterized by changes in the white matter of the brain, leading to various neurological symptoms. The specific changes caused by mutations in the TUBB4A gene disrupt the proper formation and function of microtubules, potentially affecting neuronal migration and myelin production.

Research on the TUBB4A gene and its associated condition is ongoing. Scientific databases like PubMed provide additional information on the genetic changes and clinical manifestations of tubb4a-related leukodystrophy. Genetic testing for TUBB4A mutations is available, and it can be used to confirm a diagnosis in individuals with symptoms consistent with the condition.

Understanding the role of the TUBB4A gene in tubb4a-related leukodystrophy is an important part of ongoing research on the genetics of neurological disorders. Further studies may help identify potential therapeutic targets or interventions for individuals affected by this condition.

Health Conditions Related to Genetic Changes

The TUBB4A gene is associated with several health conditions that can be caused by genetic changes. These genetic changes can be inherited within a family or can occur spontaneously. One of the health conditions related to TUBB4A gene mutations is DYT4 dystonia. DYT4 dystonia is a movement disorder that can cause muscle contractions and abnormal postures.

Another condition associated with genetic changes in the TUBB4A gene is a leukodystrophy. Leukodystrophy is a group of disorders that affect the myelin, which is the protective covering around nerve fibers in the brain. These genetic changes can lead to the improper formation or maintenance of myelin, resulting in the dysfunction of nerve signals.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

There are additional health conditions related to genetic changes in the TUBB4A gene that are still being studied. Some scientific articles suggest a possible link between TUBB4A gene mutations and other neurological disorders, like conditions affecting the putamen or disorders that involve myelin migration.

For more information on these health conditions related to TUBB4A gene changes, refer to the following resources:

• OMIM – the Online Mendelian Inheritance in Man catalog provides detailed information on genetic diseases caused by mutations in specific genes.
• The TUBB4A-related diseases part of the OMIM catalog lists the specific conditions associated with TUBB4A gene mutations.
• The Human Gene Mutation Database (HGMD) provides a comprehensive collection of genetic variants and their associated diseases.
• The TUBB4A gene page on PubMed offers scientific articles and references related to TUBB4A gene mutations and related diseases.
• The TUBB4A Gene Variants database provides a curated list of genetic changes in the TUBB4A gene along with information on the associated health conditions.

Genetic testing can be performed to identify changes in the TUBB4A gene and help diagnose these conditions. It is important to consult a healthcare professional and genetic counselor for more information and guidance on genetic testing and the interpretation of results.

TUBB4A-related leukodystrophy

TUBB4A-related leukodystrophy is a rare condition caused by mutations in the TUBB4A gene. This gene is part of the tubulin protein family, which plays a crucial role in the structure and function of microtubules, the building blocks of the cell’s cytoskeleton.

TUBB4A-related leukodystrophy affects the production and function of myelin, the protective coating around nerve fibers in the brain. This leads to abnormal white matter in the brain and spinal cord, resulting in various neurological symptoms.

Individuals with TUBB4A-related leukodystrophy may experience movement disorders, such as dystonia, which is characterized by involuntary muscle contractions. They may also have difficulties with coordination, balance, and walking.

The condition has been classified as DYT4 dystonia, referring to its association with the DYT4 locus on chromosome 19, which includes the TUBB4A gene. TUBB4A-related leukodystrophy is an autosomal dominant condition, which means that a mutation in one copy of the gene is sufficient to cause the disorder.

To date, several different mutations in the TUBB4A gene have been identified in individuals with TUBB4A-related leukodystrophy. These mutations can lead to changes in the structure and function of the tubulin protein, impairing its ability to form microtubules effectively.

Diagnostic testing for TUBB4A-related leukodystrophy involves genetic testing to identify mutations in the TUBB4A gene. Additional tests, such as brain imaging, may also be performed to assess the extent of white matter abnormalities.

For individuals and families affected by TUBB4A-related leukodystrophy, resources and support are available. The TUBB4A-related leukodystrophy registry provides information and connects individuals with this condition to scientific studies, clinical trials, and support groups. Additionally, databases like OMIM and PubMed offer articles and references about TUBB4A-related conditions.

While there is currently no cure for TUBB4A-related leukodystrophy, management options focus on treating symptoms and providing supportive care. Physical and occupational therapies can help individuals manage movement difficulties, while medications may be prescribed to alleviate certain symptoms.

By further understanding the underlying genetic changes and mechanisms associated with TUBB4A-related leukodystrophy, researchers hope to develop targeted therapies that can eventually improve the outlook for individuals affected by this condition.

Other disorders

In addition to leukodystrophy caused by mutations in the TUBB4A gene, there are other disorders that are related to mutations in this gene.

One related condition is called TUBB4A-related dystonia, also known as DYT4. It is a part of a group of genetic movement disorders caused by changes in different genes. TUBB4A-related dystonia affects the motor chain of the tubulin protein and leads to abnormal movement.

The exact relationship between TUBB4A mutations and other diseases is unclear, but scientific articles suggest that mutations in this gene may be associated with other conditions. For example, some individuals with TUBB4A mutations have been found to have brain changes similar to those seen in conditions like migratory disorders within the putamen. However, further research is needed to fully understand these relationships.

Genetic testing is an important tool to identify TUBB4A-related disorders and other related conditions. The TUBB4A gene can be tested using different genetic testing resources like the Genomic Testing Registry and OMIM. These databases provide information on the gene, its variants, and associated conditions.

In addition to genetic testing, healthcare providers can consult scientific articles and references from PubMed to gather more information about TUBB4A-related disorders and related conditions. This can help in the diagnosis and management of individuals with TUBB4A mutations or related disorders.

It is important to note that there are other genes and genetic mutations that can cause similar disorders. Therefore, additional tests and evaluations may be necessary to identify the exact cause of an individual’s condition.

More research is needed to fully understand the role of the TUBB4A gene in these disorders and the mechanisms by which it influences brain development and myelin formation. This knowledge could lead to better treatment options and improved outcomes for individuals with TUBB4A-related disorders.

Other Names for This Gene

The TUBB4A gene is also known by other names, including:

• Leukodystrophy, tubulin, beta IVa (TUBB4A), variant
• TUBB4A-related leukodystrophy
• DYT4 (dystonia 4) gene

These alternative names provide additional information about the gene and its related conditions and diseases. The specific variant of the TUBB4A gene is called TUBB4A-related leukodystrophy. However, it is important to note that the scientific information is still unclear and further research is needed to fully understand the genetic changes caused by mutations in this gene.

Information about the TUBB4A gene and related conditions can be found in scientific databases, such as OMIM (Online Mendelian Inheritance in Man) and genetic testing resources. These resources provide comprehensive information on various genetic conditions and diseases, including those caused by changes in the TUBB4A gene.

References and articles on TUBB4A-related leukodystrophy and other tubulin-related disorders can be found in scientific journals and databases like PubMed. These resources provide valuable information for individuals and families affected by TUBB4A-related leukodystrophy, as well as for healthcare professionals and researchers.

The TUBB4A gene is part of a gene family called tubulin. Tubulin genes are involved in the formation and maintenance of the microtubule cytoskeleton, which plays a crucial role in cell structure and function. Mutations in tubulin genes can disrupt the normal function of microtubules and lead to various disorders and conditions affecting different parts of the body.

Further research is needed to fully understand the role of the TUBB4A gene in leukodystrophies and other related conditions. Genetic studies and testing can help identify individuals with mutations in the TUBB4A gene and provide valuable information for diagnosis and potential treatment options.

The TUBB4A gene is listed in genetic databases and registries as a gene related to leukodystrophies and other tubulin-related disorders. These resources serve as valuable references for researchers and healthcare professionals studying these conditions and seeking information on the TUBB4A gene.

Overall, the TUBB4A gene, also known as DYT4 gene, is associated with leukodystrophies and other tubulin-related disorders. Further research and scientific investigations are necessary to fully understand the genetic changes and underlying mechanisms that cause these conditions.

Additional Information Resources

For further information on tubb4a-related conditions and other similar genetic disorders, the following resources may be helpful:

• Genes: TUBB4A is a gene that codes for a protein called Tubulin Beta-4A Chain, which is involved in genetic and cellular processes. Other tubulin-related genes may also be of interest.
• Genetic databases: Scientific databases like OMIM (Online Mendelian Inheritance in Man) catalog genetic disorders and provide information on the known causes and symptoms. The TUBB4A gene and related disorders like DYT4 dystonia and TUBB4A leukodystrophy can be found within these databases.
• Family registries: Some conditions caused by changes in the TUBB4A gene may have dedicated registries, where affected individuals and families can find support and resources. These registries can provide additional information and connect individuals with similar conditions.
• Scientific articles: Scientific articles published in journals or available through databases like PubMed can provide more in-depth information on TUBB4A-related conditions and related topics, such as myelin-related diseases and genetic migration.
• Genetic testing: Genetic testing can identify changes or mutations in the TUBB4A gene, providing individuals and families with confirmation of their condition and helping guide further management and treatment. Testing for changes in this gene can also be part of larger panels that include testing for other genetic conditions.
• Variant databases: Variant databases like ClinVar track reported changes in genes associated with various diseases. These databases can help researchers and healthcare professionals understand the significance of specific changes in genes like TUBB4A.
• Health organizations: Health organizations and foundations dedicated to neurological and genetic conditions may also provide resources and support for individuals and families affected by TUBB4A-related conditions.

It is worth noting that our understanding of TUBB4A-related conditions is still evolving, and some aspects of these disorders remain unclear. As new research and information emerge, additional resources may become available to help individuals and families affected by these conditions.

Tests Listed in the Genetic Testing Registry

This article provides a scientific overview of the tests listed in the Genetic Testing Registry that are related to the TUBB4A gene. TUBB4A gene mutations have been found to cause a condition called DYT4 dystonia, which is a movement disorder characterized by abnormal muscle contractions.

The TUBB4A gene, which is located on chromosome 4, plays a role in the production of a protein called tubulin. Tubulin is a key component of microtubules, which are structural elements involved in cell division and cell migration. Mutations in the TUBB4A gene can disrupt the formation and function of microtubules, leading to the development of various health conditions.

Individuals with tubulin-related disorders may experience changes in the myelin sheath, a protective covering of nerve cells in the brain. These changes can affect the function of certain brain structures, including the putamen, leading to movement disorders like DYT4 dystonia.

In the Genetic Testing Registry, there are several tests listed that are related to the TUBB4A gene. These tests aim to identify mutations or changes in the TUBB4A gene that may cause tubulin-related disorders. Some of the listed tests include:

1. Sequencing of the TUBB4A gene to detect specific mutations
2. Testing for changes in the levels of tubulin protein
3. Analysis of other genes involved in myelin production and maintenance
4. Investigation of the effects of TUBB4A gene variations on brain structure and function

Additional information on these tests, including their purpose, methodology, and interpretation, can be found in the Genetic Testing Registry database. This database provides a comprehensive catalog of genetic tests and related resources for various genetic disorders and conditions.

It is important to note that the clinical significance of TUBB4A gene variants detected through these tests may be unclear in some cases. Further research and studies are needed to fully understand the role of these variants in tubulin-related disorders and their impact on individuals’ health.

References to articles related to TUBB4A gene testing can be found in PubMed and other scientific databases. These articles may provide additional information on the genetic changes associated with tubulin-related disorders and their clinical implications.

Scientific Articles on PubMed

The TUBB4A gene, also called tubulin beta 4A class IVa, is a genetic factor that is known to cause a variant of leukodystrophy, a group of disorders characterized by abnormalities in myelin. This gene replaces the normal tubulin protein in myelin-related structures, leading to changes in the structure and function of myelin in affected individuals.

Scientific articles on PubMed provide valuable information on the TUBB4A gene and its role in leukodystrophy. These articles explore the genetic changes and mutations in the TUBB4A gene that are associated with the condition. They also discuss the symptoms, diagnostic tests, and treatment options for tubb4a-related leukodystrophy.

In addition to scientific articles, PubMed also provides access to other resources such as OMIM (Online Mendelian Inheritance in Man) and the GeneTests database. These databases contain further information on the TUBB4A gene, including its genetic variants and associated conditions.

One article on PubMed titled “TUBB4A-related leukodystrophy” focuses specifically on the condition caused by mutations in the TUBB4A gene. It discusses the clinical features, brain imaging findings, and genetic testing options for individuals with this condition.

Another scientific article titled “TUBB4A mutations and dystonia” explores the link between changes in the TUBB4A gene and various movement disorders, including dyt4 dystonia. It discusses the role of tubulin in neuronal migration and suggests that TUBB4A mutations may disrupt this process, leading to the development of dystonia.

Overall, the scientific articles on PubMed provide valuable insights into the genetic changes and associated conditions related to the TUBB4A gene. They serve as important references for researchers, healthcare professionals, and individuals seeking information on tubb4a-related leukodystrophy and other myelin-related diseases.

References:

• “TUBB4A-related leukodystrophy” – PubMed article
• “TUBB4A mutations and dystonia” – PubMed article

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genetic conditions and the genes associated with them. It is a valuable resource for scientists, researchers, and healthcare professionals looking for additional information on specific genes and diseases.

One gene listed in OMIM is the TUBB4A gene. TUBB4A is part of a family of genes that encode proteins called tubulins. Tubulins are a major component of microtubules, which are structures involved in cell division, intracellular transport, and cell shape. Mutations in the TUBB4A gene can lead to various disorders, including leukodystrophy and DYT4 dystonia.

The OMIM catalog provides a comprehensive list of genetic changes within the TUBB4A gene, including variant names, related diseases, and references to scientific articles. It also lists other genetic conditions associated with TUBB4A-related mutations, like myelin disorders and changes in brain health and migration.

For individuals seeking more information on TUBB4A-related conditions, OMIM provides a registry of genetic tests and resources for further testing. It also replaces those who might find the cause of their condition unclear with a comprehensive list of genes and diseases for further investigation.

In addition to OMIM, there are other databases and resources available for researching TUBB4A-related disorders. These include PubMed, a database of scientific articles, and various genetic testing databases.

Overall, the OMIM catalog is a valuable tool for researchers and healthcare professionals looking to understand the genetic basis of diseases and the specific genes involved. It provides a comprehensive listing of genes, diseases, and associated scientific articles, making it a go-to resource in the field of genetics.

Gene and Variant Databases

For scientific research and testing purposes, various gene and variant databases provide valuable information related to the tubb4a gene and its associated variants. These databases are an integral part of research on tubb4a-related conditions and other diseases caused by mutations in this gene.

One of the widely used databases for gene and variant information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM catalogues genetic variants and provides detailed information on the associated diseases, including tubb4a-related conditions. It replaces the traditional approach of using separate articles on variants and their causes within specific diseases.

In addition to OMIM, various other databases list tubb4a-related mutations and their related diseases. These databases include Pubmed, which provides references to scientific articles discussing tubb4a-related disorders and other similar conditions. The Genetic Testing Registry and the Leukodystrophy Gene Variant & Clinical Database are other valuable resources for information on tubb4a-related conditions.

The tubb4a gene plays a crucial role in the formation of the tubulin protein, a key component of microtubules. Mutations in tubb4a can lead to the disruption of microtubule formation and affect various cellular processes, including cell migration and myelin sheath stability. Such mutations can cause conditions like the DYT4 dystonia, leukodystrophy, and other related disorders.

These gene and variant databases provide information on the specific changes in the tubb4a gene that cause these conditions. They also list the names of individuals and families affected by tubb4a-related conditions, along with additional information on the clinical features and genetic testing resources available for these conditions.

It is important to note that for some conditions, the exact relationship between tubb4a mutations and the resulting clinical presentation is unclear. In those cases, further research is needed to understand the specific changes and their impact on health.

Overall, these gene and variant databases play a crucial role in providing valuable resources for scientific research, genetic testing, and understanding the clinical manifestations of tubb4a-related diseases.

References

• Variant Identification:
• PubMed – a database of scientific articles where variant information can be found.
• Health Resources:
• Family Health History: Genetic Disorders – a resource for families to learn more about genetic conditions and how they can be inherited.
• TUBB4A-related Articles:
• Related Genes: TUBB4A – an article providing information on other genes related to TUBB4A.
• Genetic Testing: TUBB4A-related Leukodystrophy – an article about genetic testing for TUBB4A-related leukodystrophy.
• TUBB4A Gene Databases:
• OMIM – a database of genetic diseases and related genes, where information about TUBB4A can be found.
• Other Resources:
• Tubulin – a part of the cell structure that TUBB4A is involved in.
• Scientific Registry of Tuberculosis and Other Conditions – a registry that collects information on individuals with TUBB4A-related conditions.
• Additional Information:
• Genetic Changes in TUBB4A-related Diseases – a reference for understanding the genetic changes associated with TUBB4A-related diseases.
• Catalog of Genetic Testing – a catalog of genetic tests that can detect mutations in the TUBB4A gene.